8-80693070-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001033723.3(ZNF704):c.259G>A(p.Ala87Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001033723.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF704 | NM_001033723.3 | c.259G>A | p.Ala87Thr | missense_variant | Exon 3 of 9 | ENST00000327835.7 | NP_001028895.1 | |
ZNF704 | NM_001367783.1 | c.781G>A | p.Ala261Thr | missense_variant | Exon 3 of 9 | NP_001354712.1 | ||
ZNF704 | XM_017013725.2 | c.283G>A | p.Ala95Thr | missense_variant | Exon 3 of 9 | XP_016869214.1 | ||
ZNF704 | XR_928797.3 | n.1205G>A | non_coding_transcript_exon_variant | Exon 3 of 10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF704 | ENST00000327835.7 | c.259G>A | p.Ala87Thr | missense_variant | Exon 3 of 9 | 1 | NM_001033723.3 | ENSP00000331462.3 | ||
ZNF704 | ENST00000519936.2 | c.781G>A | p.Ala261Thr | missense_variant | Exon 3 of 9 | 5 | ENSP00000427715.2 | |||
ZNF704 | ENST00000520336.1 | n.270G>A | non_coding_transcript_exon_variant | Exon 3 of 6 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.259G>A (p.A87T) alteration is located in exon 3 (coding exon 2) of the ZNF704 gene. This alteration results from a G to A substitution at nucleotide position 259, causing the alanine (A) at amino acid position 87 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.